Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002265428 | SCV002547135 | uncertain significance | not provided | 2022-01-10 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); Missense variant in a gene in which most reported pathogenic variants are truncating/loss-of-function |
Ambry Genetics | RCV002434613 | SCV002746327 | uncertain significance | Cardiovascular phenotype | 2023-01-11 | criteria provided, single submitter | clinical testing | The c.29894_29896delAAG variant (also known as p.E9965del) is located in coding exon 119 of the TTN gene. This variant results from an in-frame AAG deletion at nucleotide positions 29894 to 29896. This results in the in-frame deletion of a glutamic acid at codon 9965. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Fulgent Genetics, |
RCV002496203 | SCV002783981 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-07-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV002265428 | SCV003825508 | uncertain significance | not provided | 2020-07-29 | criteria provided, single submitter | clinical testing |